Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135851098G>A , CM000664.2:g.135851098G>A | GRCh38 |
| NC_000002.11:g.136608668G>A , CM000664.1:g.136608668G>A | GRCh37 |
| NC_000002.10:g.136325138G>A | NCBI36 |
| NG_008104.2:g.9072C>T , LRG_338:g.9072C>T | |
| NG_008958.1:g.30344C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264156.3:c.1917+304C>T MANE Select | ENSP00000264156.2:n.1917+304C>T | |
| ENST00000264156.2:c.1917+304C>T | ENSP00000264156.2:n.1917+304C>T | |
| ENST00000483902.1:n.544+304C>T | ||
| ENST00000492091.1:n.343+304C>T | ||
| NM_005915.5:c.1917+304C>T | NP_005906.2:n.1917+304C>T | |
| NM_005915.6:c.1917+304C>T MANE Select | NP_005906.2:n.1917+304C>T |